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Published on: June 23, 2015
miRNA profiling of a mutation-negative PKD cohort reveals PKD1/PKD2 ADPKD shared signatures and differences
Bruna De Felice1, Ersilia Nigro1,2, Maria Amicone3
1Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania "Luigi Vanvitelli", Caserta, Italy.
Background:
Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by mutations in PKD1 or PKD2 genes, but a subgroup of patients has no detectable mutation and remains understudied. We profiled microRNAs (miRNAs) in this mutation-negative group and compared them with PKD1, PKD2, and healthy controls.
Methods:
Targeted miRNA profiling was used to measure miRNAs expression. We tested five prespecified contrasts using Welch's two-sided t-test (p < 0.05). For interpretation, experimentally supported miRNA-mRNA interactions were assembled and visualized into networks.
Results:
miR-92a was found upregulated across all patient-control groups. Interestingly, the mutation-negative cohort showed the broadest deregulation, pointing toward higher expression together with enhanced extracellular-matrix remodeling. PKD1 vs controls displayed a more restricted number of deregulated miRNAs; when PKD1 was compared directly with the mutation-negative group, we observed selective reductions, most notably miR-134-5p. PKD2 vs controls showed fewer changes overall but overlapped with the core signature observed in other groups and no miRNAs met the threshold in PKD2 vs mutation-negative.
Discussion:
The results indicate that miRNA dysregulation is present in the absence of identifiable PKD1/PKD2 mutations, supporting the idea of common pathways and highlighting the translational potential of miRNAs as biomarkers or therapeutic targets.
Insights
MicroRNA (miRNA) deregulation is present in autosomal dominant polycystic kidney disease (ADPKD) even without detectable PKD1/PKD2 mutations. This suggests common disease pathways and highlights miRNAs as potential biomarkers or therapeutic targets for ADPKD.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is primarily caused by mutations in PKD1 or PKD2 genes.
- A subset of ADPKD patients lacks detectable mutations and remains understudied.
- MicroRNAs (miRNAs) play crucial roles in cellular processes and disease development.
Purpose of the Study:
- To investigate miRNA expression profiles in ADPKD patients with and without detectable mutations in PKD1/PKD2.
- To compare miRNA deregulation across mutation-negative ADPKD, PKD1-mutated ADPKD, PKD2-mutated ADPKD, and healthy controls.
- To identify potential miRNA biomarkers and therapeutic targets for ADPKD.
Main Methods:
- Targeted miRNA profiling was employed to quantify miRNA expression levels.
- Statistical analysis involved Welch's two-sided t-test (p < 0.05) for five prespecified contrasts.
- miRNA-mRNA interactions were mapped and visualized in networks for biological interpretation.
Main Results:
- miR-92a was consistently upregulated across all ADPKD patient groups compared to controls.
- The mutation-negative ADPKD cohort exhibited the most extensive miRNA deregulation, including enhanced extracellular-matrix remodeling.
- Specific miRNA changes were observed, such as miR-134-5p reduction in PKD1 vs. mutation-negative comparisons.
Conclusions:
- miRNA dysregulation is a feature of ADPKD, irrespective of identifiable PKD1/PKD2 mutations.
- These findings support the existence of common molecular pathways in ADPKD pathogenesis.
- Dysregulated miRNAs represent promising translational candidates for ADPKD diagnostics and therapeutics.
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